ClinGen Allele Registry
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Canonical Allele Identifier:
PA916031355
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
136433
ClinVar RCV:
RCV000119106
RCV000120166
RCV000131001
RCV000223988
RCV001354360
RCV002225343
RCV003315697
ClinVar Variation:
132685
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Val182Leu
CA157195
NM_001351834.2:c.544G>C